[Clinical picture and inheritance of ocular symptoms in arteriohepatic dysplasia (author's transl)].
Systematic examination of four children suffering from arteriohepatic dysplasia and of members of their families revealed with diminishing frequency, the following symptoms: icterus episcleralis, posterior embryotoxon, gray-yellowish precipitations in the retina, microphthalmos, corectopia with rudimentary coloboma of the iris, xanthomatosis retinae and atrophy of the optic nerve. The parents of the children presented with minor symptoms such as dysplasia iridis, arcus lipoides and hyperlipemic vascular signs in the retina. Differential diagnostic considerations suggest a hereditary disease, the pathogenesis of which is not completely clear.
D000015:Abnormalities, Multiple / Q000175:diagnosis; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005124:Eye Abnormalities; D005128:Eye Diseases / Q000235:genetics; D005260:Female; D006801:Humans; D007498:Iris / Q000002:abnormalities*; D008297:Male; D009896:Optic Atrophy / Q000150:complications; D012160:Retina / Q000002:abnormalities; D012871:Skin Diseases / Q000150:complications; D013577:Syndrome; D014973:Xanthomatosis / Q000150:complications
Zur Klinik und Vererbung der Augensymptome bei arteriohepatischer Dysplasie.